(Q33593710)

28 July 2017

title

Marfan syndrome in a large family: response of family members to a screening programme (English)

1 reference

https://api.crossref.org/works/10.1136/JMG.29.2.81

28 July 2017

1 reference

1 reference

15 October 2022

author name string

A. B. Bridges

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1613770

15 October 2022

M. Faed

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1613770

15 October 2022

M. Boxer

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1613770

15 October 2022

J. R. Gray

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1613770

15 October 2022

C. Bundy

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1613770

15 October 2022

A. Murray

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1613770

15 October 2022

language of work or name

English

0 references

publication date

1 February 1992

1 reference

full work available at URL

28 July 2017

https://europepmc.org/articles/PMC1015844

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1613770

https://europepmc.org/articles/PMC1015844?pdf=render

15 October 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1613770

https://syndication.highwire.org/content/doi/10.1136/jmg.29.2.81

15 October 2022

1 reference

https://api.crossref.org/works/10.1136/JMG.29.2.81

Journal of Medical Genetics

15 October 2022

published in

1 reference

28 July 2017

volume

29

1 reference

28 July 2017

issue

2

1 reference

28 July 2017

page(s)

81-85

1 reference

Diagnosing Marfan's syndrome

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015844

Diagnosing Marfan syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015844

Screening in practice: Reducing the psychological costs

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015844

Marfan syndrome is closely linked to a marker on chromosome 15q1.5----q2.1.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015844

Marfan syndrome affecting four generations of a family without ocular involvement

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015844

Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015844

The Marfan Syndrome: Diagnosis and Management

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015844

Marfan's syndrome: natural history and long-term follow-up of cardiovascular involvement

21 June 2018

1 reference

12 December 2020

The clinical course and echocardiographic features of Marfan's syndrome in childhood

1 reference

12 December 2020

Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome

1 reference

12 December 2020

Location on chromosome 15 of the gene defect causing Marfan syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.29.2.81

1 reference

28 July 2017

1 reference

28 July 2017

1 reference